A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659810



Internal ID9925915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94764528..94772734hg38UCSC Ensembl
chr2:95430273..95438479hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg388207
hg198207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5413368, essv6453072
SamplesNA19081, NA19065
Known GenesANKRD20A8P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659810
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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